Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.

Background: Congenital Disorders of Glycosylation (CDG) are genetic diseases caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem disorders with mild to severe involvement.

Methods: We studied 554 patients (2007-2017) with a clinical phenotype compatible with a CDG.